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Glycobiology in Human Health and Disease, 2nd Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Biochemistry".

Deadline for manuscript submissions: 31 October 2026 | Viewed by 845

Editor


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Guest Editor
Department of Experimental Medical Science, Glycobiology Group, Lund University, Biomedical Center A13, SE-221 84 Lund, Sweden
Interests: glycobiology; glypicans; cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Glycobiology, the study of carbohydrates and their interactions with proteins and other molecules, holds immense promise in unraveling the intricate mechanisms underlying human health and disease. Glycoconjugates play pivotal roles in cellular recognition, signaling, and immune response modulation, making these molecules essential players in numerous physiological and pathological processes.

Understanding the complex interplay between glycans, glycoproteins, and glycolipids with other molecules and unraveling their impact on cellular function is crucial for elucidating the molecular basis of various diseases, including cancer, neurodegenerative disorders, infectious diseases, and metabolic disorders, among many other diseases. Glycobiology research offers unique insights into disease mechanisms, biomarker discovery, and therapeutic targeting, paving the way for novel diagnostic and therapeutic strategies.

Moreover, advances in glycobiology have far-reaching implications for personalized medicine, drug development, and precision therapeutics. Deciphering the glycome's intricate language would reveal disease-specific glycan signatures, leading to the development of targeted interventions and precision medicine approaches tailored to individual patients.

This Special Issue on Glycobiology in Human Health and Disease provides a platform to report the latest findings, innovative methodologies, and translational insights in glycobiology. This Special Issue aims to accelerate progress toward unraveling the complexities of glycobiology and translating discoveries into clinical applications for improved human health.

Due to the success of the first edition of this Special Issue, we would like to add more results and new insights from recent research projects (https://www.mdpi.com/journal/ijms/special_issues/KW9PEGO194).

Dr. Katrin Mani
Guest Editor

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Keywords

  • glycans and glycoconjugates
  • glycoproteins
  • proteoglycans
  • glycolipids
  • glycosylation including glycosyltransferases and glycosidases
  • carbohydrate and glycan metabolism
  • glycan structure
  • disease biomarkers
  • glycan signaling
  • glycoimmunology
  • glycomics

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Published Papers (1 paper)

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Research

19 pages, 6388 KB  
Article
Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry
by Alan R. Mól, Nilza do C. Fontes, Savana C. L. Santos, Cynthia Costa e Silva, Gerson da S. Carvalho, Bruno J. C. B. Lima, Walquíria D. de Mello, Daniel R. de Carvalho, Eder A. Barbosa, Dirk J. Lefeber, Juliana F. Mazzeu, Jaime M. Brum and Guilherme D. Brand
Int. J. Mol. Sci. 2026, 27(14), 6309; https://doi.org/10.3390/ijms27146309 - 15 Jul 2026
Viewed by 507
Abstract
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases rapidly growing due to the discovery of new subtypes. As with many genetic conditions, their diagnosis can be challenging, impairing proper patient care and causing additional suffering to patients and their [...] Read more.
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases rapidly growing due to the discovery of new subtypes. As with many genetic conditions, their diagnosis can be challenging, impairing proper patient care and causing additional suffering to patients and their families. We have developed an N-glycomics strategy that can provide insightful information towards diagnosing CDG type II (CDG-II). N-glycans released from the plasma of healthy individuals were labeled with deuterated iodomethane, mixed with samples from known or suspected CDG-II individuals, which were derivatized with standard iodomethane, and analyzed by liquid chromatography–mass spectrometry. After identification, relative quantification of 65 glycans was performed, revealing considerable alterations in the N-glycome of several patients. Notably, reduced fucosylation was observed in patients with FUT8-CDG and SLC35C1-CDG. Additionally, individuals with mutations in the MAN1B1 gene exhibited increased amounts of hybrid and oligomannosidic structures, whereas patients with the Golgi homeostasis disorders COG1-CDG and ATP6V0A2-CDG presented marked increases in hypogalactosylated and hyposialylated structures. Multivariate statistical analysis indicated two undiagnosed patients with alterations similar to ATP6V0A2-CDG patients and another two with a profile similar to MAN1B1-CDG patients. Genetic sequencing (targeted gene panel or whole exome sequencing) of these undiagnosed patients revealed variants in the corresponding genes, confirming the diagnosis obtained from the N-glycomics analysis. Our results demonstrate how the analysis of total plasma N-glycans can be used to identify metabolic disorders and diagnose conditions based on their molecular effects on the glycoproteome. Full article
(This article belongs to the Special Issue Glycobiology in Human Health and Disease, 2nd Edition)
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